FBXO7 and Parkinson’s Disease

By: Niti Mali, (Academy of Math, Science, and Engineering – Morris Hills High School)
Summary

This project investigates the role of the FBXO7 gene in the development and progression of Parkinson's Disease (PD), a neurodegenerative disorder characterized by motor symptoms like tremors, rigidity, and bradykinesia, alongside non-motor symptoms such as depression and cognitive impairment. PD primarily affects dopaminergic neurons in the substantia nigra, with both genetic and environmental factors contributing to its onset. While genetic mutations account for 5–10% of PD cases, several key genes, including LRRK2, GBA, PARKIN, PINK1, and FBXO7, have been identified. FBXO7, part of the F-box protein family, plays a critical role in mitochondrial quality control via mitophagy, a process essential for clearing damaged mitochondria. Mutations in FBXO7 disrupt this pathway, leading to mitochondrial dysfunction and dopaminergic neuron death. The study emphasizes ongoing research efforts, including therapies targeting mitochondrial health and lysosomal functions, inflammation control, and oxidative stress reduction. Promising projects like Project Galaxy, EndLyz, and NRG aim to restore cellular functions and slow disease progression. Clinical trials are also exploring treatments like NLX-112 and Cannabidiol (CBD) for symptom management. The research highlights the importance of understanding FBXO7's interactions with other PD-related proteins, such as PARKIN and PINK1, to develop more effective and targeted therapies for Parkinson's Disease.


Difference in the amount of dopamine being received by the receptor cell between a healthy patient and a Parkinson’s patient.(Source)
Video Presentation

Impact Statement

I am Niti Mali, a senior at Morris Hills High School. My project focused on Parkinson’s disease with a focus on the FBXO7 gene and how it affects the likelihood of getting Parkinson’s. I learned a lot about the genes variants and how they affect Parkinson’s in a person. I really liked how in depth the project was and how I got the chance to use a variety of different databases. Overall, I definitely feel that I learned a lot knowledge-wise but also in preparing for my future career and any future opportunities I may have.

Report White Paper

By: Niti Mali. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.


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